research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
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510-540 / 1000+ results research G.P.2.16 Valproate, acetylcarnitine, folic acid and vitamin B12 in spinal muscular atrophy: Preliminary data of an open-label study in children
The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.
research 1433 Epithelially derived, mitochondrial MPZL3 negatively regulates murine and human hair follicle cycling
A protein called MPZL3 in mitochondria slows down hair growth and could be a target for treating hair growth disorders.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Case 4-2012
Early diagnosis and treatment of TPP can prevent complications.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research Methotrexate injection site reactions: Case report and literature review
Methotrexate injection site reactions are rare but can be managed by changing injection sites and using topical treatments.
research Multiple Autoimmune Syndrome type 3- Thyroiditis, Vitiligo and Alopecia Areata
A woman with multiple autoimmune diseases showed improvement in hair loss but not in skin discoloration after treatment.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Hypothyroidism with too Many Associations Case Report
The patient with autoimmune hypothyroidism improved after treatment for thyroid and associated conditions.
research Metabolic syndrome and the skin: a more than superficial association. Reviewing the association between skin diseases and metabolic syndrome and a clinical decision algorithm for high risk patients
Some skin conditions may indicate metabolic syndrome, which could help with early detection and management of related health issues.
research P07 Pityriasis amiantacea: a unique presentation of psoriasis associated with tumour necrosis factor-α inhibitor therapy
A woman's rare scalp condition worsened after using a specific arthritis medication, suggesting such medications can sometimes trigger or aggravate psoriasis.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Diagnostic Exercise: Severe Bilaterally Symmetrical Alopecia in a Horse
A horse with severe hair loss was diagnosed with alopecia areata and a yeast infection.
research Monilethrix – Case report of a rare disease
Monilethrix causes fragile, patchy hair loss.
research A computationally inferred regulatory heart aging model including post-transcriptional regulations
Researchers created a model to understand heart aging, highlighting key genes and pathways, and suggesting miR-208a as a potential heart attack biomarker.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Glycolytic Dysfunction in Granulosa Cells and Its Contribution to Metabolic Dysfunction in Polycystic Ovary Syndrome
Targeting glycolysis may help treat PCOS by improving insulin sensitivity and ovarian function.
research Efficacy and safety of glucocorticoids in the treatment of progressive muscular dystrophy in children: a systematic review and meta-analysis
Glucocorticoids for progressive muscular dystrophy in children don't improve muscle strength or function but do increase certain side effects.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Abnormal neuronal differentiation and mitochondrial dysfunction in hair follicle-derived induced pluripotent stem cells of schizophrenia patients
Schizophrenia patients' stem cells show abnormal neuron development and mitochondrial issues.
research Inborn Errors of Biotin Metabolism
Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Oligomenorrhoea in Exercising Women
Irregular menstrual cycles in exercising women may be linked to energy deficiency or hormonal imbalances, requiring careful diagnosis for proper treatment.
research Tissue and Circulating MicroRNA Co-expression Analysis Shows Potential Involvement of miRNAs in the Pathobiology of Frontal Fibrosing Alopecia
Certain microRNAs might help identify and understand Frontal Fibrosing Alopecia.
research Quantitation of human mitochondrial DNA and whole mtGenomes sequencing of fingernail/hair shaft samples
Mitochondrial DNA from nails and hair can be effectively analyzed for forensic use.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Adipocyte-myofibroblast transition as a possible pathophysiological step in androgenetic alopecia
AMT may cause hair loss and changing dWAT activity could help treat it.